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Conference Program

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Cardinal Signs

16 Mar 2024
Venue: MTCC
Meeting Room: 718
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical-Adult & Pediatric
  • Secondary Categories:
    • Clinical-Adult & Pediatric
Despite increasing utility of next generation molecular analysis, there continues to be a role for clinical evaluation as a part of the patient assessment. Not every disorder has been molecularly characterized, nor does next generation sequencing always identify the causal variant (s). As a result, there is still a role for discussion of clinical manifestations and cardinal signs of conditions potentially encountered in the clinic.  This session will provide information on the cardinal manifestations, as well as the natural history, differential diagnoses, and cause (if known) of four selected disorders.

Learning Objectives

  1. Recognize the striking craniofacial features of the MCTT Syndrome and contrast with those associated with N-terminal truncations
  2. Define five symptoms of Schaaf-Yang syndrome that are present in at least 50% of affected individuals.
  3. identify anomalies consistent with Fryns syndrome
  4. Describe the clinical findings and molecular mechanism of PNPLA6-related disorders